NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) AND Methylmalonic acidemia with homocystinuria, type cblX
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000602586.9
Allele description [Variation Report for NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)]
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024